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International Journal of Neonatal Screening
Article . 2022 . Peer-reviewed
License: CC BY
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dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening

Authors: Gang Peng; Yunxuan Zhang; Hongyu Zhao; Curt Scharfe;

dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening

Abstract

The Recommended Uniform Screening Panel (RUSP) contains more than forty metabolic disorders recommended for inclusion in universal newborn screening (NBS). Tandem-mass-spectrometry-based screening of metabolic analytes in dried blood spot samples identifies most affected newborns, along with a number of false positive results. Due to their influence on blood metabolite levels, continuous and categorical covariates such as gestational age, birth weight, age at blood collection, sex, parent-reported ethnicity, and parenteral nutrition status have been shown to reduce the accuracy of screening. Here, we developed a database and web-based tools (dbRUSP) for the analysis of 41 NBS metabolites and six variables for a cohort of 500,539 screen-negative newborns reported by the California NBS program. The interactive database, built using the R shiny package, contains separate modules to study the influence of single variables and joint effects of multiple variables on metabolite levels. Users can input an individual’s variables to obtain metabolite level reference ranges and utilize dbRUSP to select new candidate markers for the detection of metabolic conditions. The open-source format facilitates the development of data mining algorithms that incorporate the influence of covariates on metabolism to increase accuracy in genetic disease screening.

Keywords

Newborn screening, Inborn metabolic disorders, Tandem mass spectrometry, newborn screening, Second-tier testing, 610, false positive screen, False positive screen, Pediatrics, RJ1-570, Article, newborn screening; inborn metabolic disorders; tandem mass spectrometry; false positive screen; second-tier testing, second-tier testing, tandem mass spectrometry, inborn metabolic disorders

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    popularity
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    Top 10%
    influence
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    impulse
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Top 10%
Average
Average
Green
gold